ID   KRT83_HUMAN             Reviewed;         493 AA.
AC   P78385; A1A4S9; B2RC21; Q6NT21; Q9NSB3;
DT   29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT   16-DEC-2008, sequence version 2.
DT   24-JAN-2024, entry version 183.
DE   RecName: Full=Keratin, type II cuticular Hb3;
DE   AltName: Full=Hair keratin K2.10;
DE   AltName: Full=Keratin-83;
DE            Short=K83;
DE   AltName: Full=Type II hair keratin Hb3;
DE   AltName: Full=Type-II keratin Kb23;
GN   Name=KRT83; Synonyms=KRTHB3;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS CYS-149;
RP   MET-279 AND TYR-493.
RC   TISSUE=Scalp;
RX   PubMed=9084137; DOI=10.1046/j.1432-0436.1997.6130187.x;
RA   Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.;
RT   "Sequences and differential expression of three novel human type-II hair
RT   keratins.";
RL   Differentiation 61:187-194(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX   PubMed=10692104; DOI=10.1046/j.1523-1747.2000.00910.x;
RA   Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.;
RT   "Characterization of a 300 kbp region of human DNA containing the type II
RT   hair keratin.";
RL   J. Invest. Dermatol. 114:464-472(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT TYR-493.
RC   TISSUE=Cerebellum;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS CYS-149; MET-279 AND
RP   TYR-493.
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   INVOLVEMENT IN EKVP5.
RX   PubMed=27965375; DOI=10.1136/jmedgenet-2016-104107;
RA   Shah K., Ansar M., Mughal Z.U., Khan F.S., Ahmad W., Ferrara T.M.,
RA   Spritz R.A.;
RT   "and is allelic with dominant monilethrix.";
RL   J. Med. Genet. 54:186-189(2017).
RN   [6]
RP   VARIANT MNLIX LYS-407.
RX   PubMed=15744029; DOI=10.1136/jmg.2004.021030;
RA   van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M.,
RA   van Geel M.;
RT   "A missense mutation in the type II hair keratin hHb3 is associated with
RT   monilethrix.";
RL   J. Med. Genet. 42:E19-E19(2005).
RN   [7]
RP   VARIANTS MNLIX LYS-407 AND LYS-418.
RX   PubMed=25557232; DOI=10.1111/exd.12624;
RA   van Steensel M., Vreeburg M., Urbina M.T., Lopez P., Morice-Picard F.,
RA   van Geel M.;
RT   "Novel KRT83 and KRT86 mutations associated with monilethrix.";
RL   Exp. Dermatol. 24:222-224(2015).
CC   -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC   -!- INTERACTION:
CC       P78385; O43184-4: ADAM12; NbExp=3; IntAct=EBI-10221390, EBI-12006944;
CC       P78385; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-10221390, EBI-11954519;
CC       P78385; Q6NUJ2: C11orf87; NbExp=3; IntAct=EBI-10221390, EBI-6660291;
CC       P78385; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-10221390, EBI-11752486;
CC       P78385; Q02930-3: CREB5; NbExp=3; IntAct=EBI-10221390, EBI-10192698;
CC       P78385; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10221390, EBI-3867333;
CC       P78385; P55040: GEM; NbExp=3; IntAct=EBI-10221390, EBI-744104;
CC       P78385; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-10221390, EBI-11975289;
CC       P78385; P09211: GSTP1; NbExp=3; IntAct=EBI-10221390, EBI-353467;
CC       P78385; P49639: HOXA1; NbExp=8; IntAct=EBI-10221390, EBI-740785;
CC       P78385; P19012: KRT15; NbExp=3; IntAct=EBI-10221390, EBI-739566;
CC       P78385; P08779: KRT16; NbExp=3; IntAct=EBI-10221390, EBI-356410;
CC       P78385; P08727: KRT19; NbExp=3; IntAct=EBI-10221390, EBI-742756;
CC       P78385; Q7Z3Z0: KRT25; NbExp=3; IntAct=EBI-10221390, EBI-11980019;
CC       P78385; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-10221390, EBI-3044087;
CC       P78385; Q15323: KRT31; NbExp=6; IntAct=EBI-10221390, EBI-948001;
CC       P78385; Q14525: KRT33B; NbExp=3; IntAct=EBI-10221390, EBI-1049638;
CC       P78385; O76011: KRT34; NbExp=3; IntAct=EBI-10221390, EBI-1047093;
CC       P78385; Q92764: KRT35; NbExp=3; IntAct=EBI-10221390, EBI-1058674;
CC       P78385; O76014: KRT37; NbExp=3; IntAct=EBI-10221390, EBI-1045716;
CC       P78385; O76015: KRT38; NbExp=8; IntAct=EBI-10221390, EBI-1047263;
CC       P78385; Q6A163: KRT39; NbExp=3; IntAct=EBI-10221390, EBI-11958242;
CC       P78385; Q6A162: KRT40; NbExp=3; IntAct=EBI-10221390, EBI-10171697;
CC       P78385; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10221390, EBI-10172290;
CC       P78385; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10221390, EBI-10171774;
CC       P78385; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-10221390, EBI-10172052;
CC       P78385; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-10221390, EBI-1052037;
CC       P78385; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-10221390, EBI-10241252;
CC       P78385; Q9BYR6: KRTAP3-3; NbExp=5; IntAct=EBI-10221390, EBI-3957694;
CC       P78385; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-10221390, EBI-11962084;
CC       P78385; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10221390, EBI-16439278;
CC       P78385; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10221390, EBI-945833;
CC       P78385; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-10221390, EBI-22310682;
CC       P78385; Q16656-4: NRF1; NbExp=3; IntAct=EBI-10221390, EBI-11742836;
CC       P78385; O43482: OIP5; NbExp=3; IntAct=EBI-10221390, EBI-536879;
CC       P78385; P32242: OTX1; NbExp=3; IntAct=EBI-10221390, EBI-740446;
CC       P78385; P78337: PITX1; NbExp=3; IntAct=EBI-10221390, EBI-748265;
CC       P78385; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-10221390, EBI-12014286;
CC       P78385; Q12837: POU4F2; NbExp=3; IntAct=EBI-10221390, EBI-17236143;
CC       P78385; Q8WTX9: ZDHHC1; NbExp=3; IntAct=EBI-10221390, EBI-2818796;
CC   -!- TISSUE SPECIFICITY: Synthesis begins in the cortex 10-15 cell layers
CC       above the apex of the dermal papilla and ends abruptly in the middle of
CC       the cortex. {ECO:0000269|PubMed:9084137}.
CC   -!- DISEASE: Monilethrix (MNLIX) [MIM:158000]: A disorder clinically
CC       characterized by alopecia and follicular papules. Affected hairs have
CC       uniform elliptical nodes of normal thickness and intermittent
CC       constrictions, internodes at which the hair easily breaks. Usually only
CC       the scalp is involved, but in severe forms, the secondary sexual hair,
CC       eyebrows, eyelashes, and nails may also be affected.
CC       {ECO:0000269|PubMed:15744029, ECO:0000269|PubMed:25557232}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- DISEASE: Erythrokeratodermia variabilis et progressiva 5 (EKVP5)
CC       [MIM:617756]: A form of erythrokeratodermia variabilis et progressiva,
CC       a genodermatosis characterized by the coexistence of two independent
CC       skin lesions: transient erythema and hyperkeratosis that is usually
CC       localized but occasionally occurs in its generalized form. Clinical
CC       presentation varies significantly within a family and from one family
CC       to another. Palmoplantar keratoderma is present in around 50% of cases.
CC       EKVP5 inheritance is autosomal recessive.
CC       {ECO:0000269|PubMed:27965375}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I
CC       (acidic) and II (neutral to basic).
CC   -!- SIMILARITY: Belongs to the intermediate filament family.
CC       {ECO:0000255|PROSITE-ProRule:PRU01188}.
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DR   EMBL; X99141; CAA67578.1; -; mRNA.
DR   EMBL; Y19208; CAB76828.1; -; Genomic_DNA.
DR   EMBL; AK314904; BAG37418.1; -; mRNA.
DR   EMBL; BC069546; AAH69546.1; -; mRNA.
DR   EMBL; BC128063; AAI28064.1; -; mRNA.
DR   CCDS; CCDS8823.1; -.
DR   RefSeq; NP_002273.3; NM_002282.3.
DR   AlphaFoldDB; P78385; -.
DR   SMR; P78385; -.
DR   BioGRID; 110087; 78.
DR   IntAct; P78385; 44.
DR   STRING; 9606.ENSP00000293670; -.
DR   ChEMBL; CHEMBL4523262; -.
DR   iPTMnet; P78385; -.
DR   PhosphoSitePlus; P78385; -.
DR   SwissPalm; P78385; -.
DR   BioMuta; KRT83; -.
DR   DMDM; 218511666; -.
DR   jPOST; P78385; -.
DR   MassIVE; P78385; -.
DR   PaxDb; 9606-ENSP00000293670; -.
DR   PeptideAtlas; P78385; -.
DR   ProteomicsDB; 57609; -.
DR   Antibodypedia; 26572; 77 antibodies from 16 providers.
DR   DNASU; 3889; -.
DR   Ensembl; ENST00000293670.3; ENSP00000293670.3; ENSG00000170523.3.
DR   GeneID; 3889; -.
DR   KEGG; hsa:3889; -.
DR   MANE-Select; ENST00000293670.3; ENSP00000293670.3; NM_002282.3; NP_002273.3.
DR   UCSC; uc001saf.2; human.
DR   AGR; HGNC:6460; -.
DR   CTD; 3889; -.
DR   DisGeNET; 3889; -.
DR   GeneCards; KRT83; -.
DR   HGNC; HGNC:6460; KRT83.
DR   HPA; ENSG00000170523; Tissue enriched (skin).
DR   MalaCards; KRT83; -.
DR   MIM; 158000; phenotype.
DR   MIM; 602765; gene.
DR   MIM; 617756; phenotype.
DR   neXtProt; NX_P78385; -.
DR   OpenTargets; ENSG00000170523; -.
DR   Orphanet; 573; Monilethrix.
DR   Orphanet; 316; Progressive symmetric erythrokeratodermia.
DR   PharmGKB; PA30249; -.
DR   VEuPathDB; HostDB:ENSG00000170523; -.
DR   eggNOG; ENOG502SKJW; Eukaryota.
DR   GeneTree; ENSGT00940000161838; -.
DR   HOGENOM; CLU_012560_5_0_1; -.
DR   InParanoid; P78385; -.
DR   OMA; KPCGGSC; -.
DR   OrthoDB; 4640531at2759; -.
DR   PhylomeDB; P78385; -.
DR   TreeFam; TF317854; -.
DR   PathwayCommons; P78385; -.
DR   Reactome; R-HSA-6805567; Keratinization.
DR   Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR   SignaLink; P78385; -.
DR   BioGRID-ORCS; 3889; 21 hits in 1130 CRISPR screens.
DR   ChiTaRS; KRT83; human.
DR   GeneWiki; KRT83; -.
DR   GenomeRNAi; 3889; -.
DR   Pharos; P78385; Tbio.
DR   PRO; PR:P78385; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   RNAct; P78385; Protein.
DR   Bgee; ENSG00000170523; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 72 other cell types or tissues.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR   GO; GO:0045095; C:keratin filament; IBA:GO_Central.
DR   GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR   GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR   GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
DR   GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR   GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR   Gene3D; 1.20.5.170; -; 1.
DR   Gene3D; 1.20.5.500; Single helix bin; 1.
DR   Gene3D; 1.20.5.1160; Vasodilator-stimulated phosphoprotein; 1.
DR   InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR   InterPro; IPR018039; IF_conserved.
DR   InterPro; IPR039008; IF_rod_dom.
DR   InterPro; IPR032444; Keratin_2_head.
DR   InterPro; IPR003054; Keratin_II.
DR   PANTHER; PTHR45616; GATA-TYPE DOMAIN-CONTAINING PROTEIN; 1.
DR   PANTHER; PTHR45616:SF55; KERATIN, TYPE II CUTICULAR HB3; 1.
DR   Pfam; PF00038; Filament; 1.
DR   Pfam; PF16208; Keratin_2_head; 1.
DR   PRINTS; PR01276; TYPE2KERATIN.
DR   SMART; SM01391; Filament; 1.
DR   SUPFAM; SSF57184; Growth factor receptor domain; 1.
DR   SUPFAM; SSF64593; Intermediate filament protein, coiled coil region; 2.
DR   PROSITE; PS00226; IF_ROD_1; 1.
DR   PROSITE; PS51842; IF_ROD_2; 1.
DR   Genevisible; P78385; HS.
PE   1: Evidence at protein level;
KW   Coiled coil; Disease variant; Intermediate filament; Isopeptide bond;
KW   Keratin; Palmoplantar keratoderma; Reference proteome; Ubl conjugation.
FT   CHAIN           1..493
FT                   /note="Keratin, type II cuticular Hb3"
FT                   /id="PRO_0000063699"
FT   DOMAIN          111..422
FT                   /note="IF rod"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT   REGION          1..111
FT                   /note="Head"
FT   REGION          112..146
FT                   /note="Coil 1A"
FT   REGION          147..156
FT                   /note="Linker 1"
FT   REGION          157..257
FT                   /note="Coil 1B"
FT   REGION          258..274
FT                   /note="Linker 12"
FT   REGION          275..418
FT                   /note="Coil 2"
FT   REGION          419..493
FT                   /note="Tail"
FT   CROSSLNK        217
FT                   /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT                   G-Cter in SUMO1)"
FT                   /evidence="ECO:0000250|UniProtKB:P78386"
FT   VARIANT         149
FT                   /note="R -> C (in dbSNP:rs2857663)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:9084137"
FT                   /id="VAR_018119"
FT   VARIANT         279
FT                   /note="I -> M (in dbSNP:rs2852464)"
FT                   /evidence="ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|PubMed:9084137"
FT                   /id="VAR_018120"
FT   VARIANT         407
FT                   /note="E -> K (in MNLIX; dbSNP:rs57802288)"
FT                   /evidence="ECO:0000269|PubMed:15744029,
FT                   ECO:0000269|PubMed:25557232"
FT                   /id="VAR_023052"
FT   VARIANT         418
FT                   /note="E -> K (in MNLIX; dbSNP:rs1438087533)"
FT                   /evidence="ECO:0000269|PubMed:25557232"
FT                   /id="VAR_073049"
FT   VARIANT         493
FT                   /note="H -> Y (in dbSNP:rs2857671)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9084137"
FT                   /id="VAR_018121"
FT   CONFLICT        67
FT                   /note="S -> D (in Ref. 1; CAA67578)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        314
FT                   /note="I -> V (in Ref. 3; BAG37418)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        473
FT                   /note="C -> R (in Ref. 3; BAG37418)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   493 AA;  54195 MW;  73BE2DA2C93F3EB6 CRC64;
     MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF GSHSVCGGFR
     AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI DPNAQCVKQE EKEQIKSLNS
     RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE CCQSNLEPLF AGYIETLRRE AECVEADSGR
     LASELNHVQE VLEGYKKKYE EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE
     IDFLRRLYEE EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES
     WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK LEAAVAQSEQ
     QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS KLGLDIEIAT YRRLLEGEEQ
     RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS RPVTGSVCSA PCNGNLVVST GLCKPCGQLN
     TTCGGGSCGQ GRH
//